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JACI-D-23-00956-Figure 2

Your Diagram TitleTCR-signalosome insufficiency → T-cell activation insufficiency: 6V(D)J-recombination insufficiency → T- and B-cell antigen receptor-repertoire diversity insufficiency: 5AIRE-expression insufficiency → T- and B-cell antigen receptor-repertoire diversity insufficiency: 5Actin-cytoskeleton insufficiency → myeloid and lymphoid cell activation, differentiation, and migration insufficiency: 5NFKB2-signaling imbalance → T- and B-cell antigen receptor-repertoire diversity insufficiency: 4PIP3-signalling imbalance → T- and B-cell hyperactivity: 4T:B-cell co-signaling insufficiency → T- and B-cell activation insufficiency: 3CBM-signalosome insufficiency → T- and B-cell activation insufficiency: 3NFKB1-signaling imbalance → T- and B-cell activation insufficiency: 3Transcription factor insufficiency → Treg insufficiency: 3IL-2-signalling imbalance → Treg insufficiency: 3Class-switch-recombination and somatic hypermutation insufficiency → B-cell differentiation insufficiency: 3CTLA4-insufficiency → Treg:Teff co-signaling insufficiency: 3JAK/STAT/SOCS-signaling imbalance → Treg and Thelp differentiation insufficiency: 3IPEX-like → IL2RA,B: 2Purine metabolism insufficiency → lymphocyte survival insufficiency: 2Purine metabolism insufficiency → Treg insufficiency: 2TCR-complex insufficiency → T-cell activation insufficiency: 2DNA-methylation insufficiency → lymphocyte development insufficiency: 2Transcription factor insufficiency → thymic stroma insufficiency: 2Histone-methylation imbalance → T- and B-cell differentiation insufficiency: 2B-cell co-receptor-signaling insufficiency → B-cell activation insufficiency: 2B-cell co-signaling insufficiency → B-cell activation insufficiency: 2Transcription factor insufficiency → lymphocyte differentiation insufficiency: 2FASL:FAS-signaling insufficiency → lymphocyte apoptosis insufficiency: 2FASL:FAS- and TNF:TNFR-signaling insufficiency → lymphocyte apoptosis insufficiency: 2Mitochondrial glucose utilization insufficiency → Treg and Thelp differentiation insufficiency: 2AIHA → LAT: 1AIHA → SLP76: 1AIHA → RAG1,2: 1ITP → LAT: 1ITP → RAG1,2: 1ITP → DCLRE1C: 1ITP → NHEJ1: 1thyroiditis → RAG1,2: 1dermatitis → ADA: 1AIN → RAG1,2: 1granuloma(-tosis) → RAG1,2: 1granuloma(-tosis) → PRKCD: 1AIHA → NHEJ1: 1aplastic anemia → NHEJ1: 1vitiligo → RAG1,2: 1thyroiditis → PRKCD: 1thyroiditis → NHEJ1: 1alopecia → RAG1,2: 1neuropathy → RAG1,2: 1myopathy → RAG1,2: 1AITTP → LAT: 1arthritis → PRKCD: 1AIHA → LIG4: 1ITP → LIG4: 1nephritis → LIG4: 1pneumonitis → LIG4: 1granuloma(-tosis) → LIG4: 1AIHA → ADA: 1ITP → ADA: 1thyroiditis → ADA: 1T1D → ADA: 1granuloma(-tosis) → ADA: 1AIHA → CD40LG: 1ITP → CD40LG: 1thyroiditis → CD40LG: 1nephritis → CD40LG: 1hepatitis → CD40LG: 1arthritis → CD40LG: 1AIHA → ICOS: 1ITP → ICOS: 1AIN → ICOS: 1thyroiditis → ICOS: 1pneumonitis → ICOS: 1arthritis → ICOS: 1AIHA → CD3G: 1ITP → CD3G: 1thyroiditis → CD3G: 1nephritis → CD3G: 1hepatitis → CD3G: 1AIHA → ZAP70: 1ITP → ZAP70: 1dermatitis → ZAP70: 1nephritis → ZAP70/HM-GOF: 1dermatitis → ZAP70/HM-GOF: 1FVIII-AAB → ZAP70/HM-GOF: 1ITP → IKZF2: 1SLE/SLE-like → IKZF2: 1AIHA → DOCK8: 1ITP → DOCK8: 1uveitis → DOCK8: 1thyroiditis → DOCK8: 1vasculitis → DOCK8: 1SLE/SLE-like → DOCK8: 1AIHA → STK4: 1ITP → STK4: 1AIN → STK4: 1vasculitis → STK4: 1nephritis → STK4: 1arthritis → STK4: 1AIHA → TRAC: 1alopecia → TRAC: 1vitiligo → TRAC: 1ITP → LCK: 1dermatitis → LCK: 1arthritis → LCK: 1AIHA → ITK: 1ITP → ITK: 1vitiligo → ITK: 1pneumonitis → ITK: 1granuloma(-tosis) → ITK: 1AIHA → MALT1: 1alopecia → MALT1: 1vitiligo → MALT1: 1AIHA → CARD11: 1ITP → CARD11: 1dermatitis → CARD11: 1alopecia → CARD11: 1vasculitis → CARD11: 1T1D → CARD11: 1arthritis → CARD11: 1SLE/SLE-like → CARD11: 1AIHA → IKBKB-LOF: 1AIN → IKBKB-LOF: 1dermatitis → IKBKB-LOF: 1hepatitis → CHUK: 1CK-AAB → MAP3K14: 1dermatitis → RELB: 1hepatitis → RELB: 1pneumonitis → RELB: 1alopecia → MSN: 1dermatitis → MSN: 1TTP → MSN: 1ITP → TFRC: 1AIN → TFRC: 1dermatitis → TFRC: 1vitiligo → TFRC: 1AIHA → SASH3: 1ITP → SASH3: 1AIN → SASH3: 1thyroiditis → SASH3: 1granuloma(-tosis) → SASH3: 1AIHA → WAS: 1ITP → WAS: 1AIN → WAS: 1arthritis → WAS: 1vasculitis → WAS: 1enteropathy → WAS: 1dermatitis → WAS: 1nephritis → WAS: 1hepatitis → WAS: 1myositis → WAS: 1dermatitis → WIPF1: 1enteropathy → WIPF1: 1dermatitis → ARPCB1: 1enteropathy → ARPCB1: 1vasculitis → ARPCB1: 1myositis → ARPCB1: 1AIHA → ARPCB1: 1ITP → ARPCB1: 1AIHA → ATM: 1ITP → ATM: 1AIN → ATM: 1arthritis → ATM: 1hepatitis → ATM: 1thyroiditis → ATM: 1thyroiditis → DNMT3B: 1hepatitis → DNMT3B: 1nephritis → DNMT3B: 1thyroiditis → POLE2: 1T1D → POLE2: 1ITP → Del22q11.2, TBX1: 1AIHA → Del22q11.2, TBX1: 1thyroiditis → Del22q11.2, TBX1: 1arthritis → Del22q11.2, TBX1: 1dermatitis → Del22q11.2, TBX1: 1enteropathy → Del22q11.2, TBX1: 1dermatitis → FOXN1: 1alopecia → FOXN1: 1nail dystrophy → FOXN1: 1ITP → Del11q23del: 1pneumonitis → Del11q23del: 1thyroiditis → Del11q23del: 1ITP → RMRP: 1AIHA → RMRP: 1AIN → RMRP: 1thyroiditis → RMRP: 1arthritis → RMRP: 1enteropathy → RMRP: 1dermatitis → RMRP: 1neuropathy → RMRP: 1nephropathy → SMARCAL1: 1AIHA → SMARCAL1: 1ITP → SMARCAL1: 1enteropathy → SMARCAL1: 1SLE/SLE-like → STAT3-DN: 1dermatitis → PGM3: 1vasculitis → PGM3: 1nephritis → PGM3: 1AIN → PGM3: 1hepatitis → MTHFD1: 1SLE/SLE-like → MTHFD1: 1AIHA → IKBKB-GOF: 1AIN → IKBKB-GOF: 1AIHA → ORAI1: 1ITP → ORAI1: 1AIHA → STIM1: 1ITP → STIM1: 1AIHA → PNP: 1ITP → PNP: 1SLE/SLE-like → PNP: 1PSC → PNP: 1arthritis → PNP: 1dermatitis → STAT5B: 1ITP → STAT5B: 1thyroiditis → STAT5B: 1alopecia → STAT5B: 1arthritis → STAT5B: 1ILD → STAT5B: 1ITP → KMT2D: 1AIHA → KMT2D: 1thyroiditis → KMT2D: 1T1D → KMT2D: 1vitiligo → KMT2D: 1ITP → KDM6A: 1AIHA → KDM6A: 1thyroiditis → KDM6A: 1T1D → KDM6A: 1vitiligo → KDM6A: 1AIHA → PIK3CD: 1ITP → PIK3CD: 1AIN → PIK3CD: 1thyroiditis → PIK3CD: 1hepatitis → PIK3CD: 1pancreatitis → PIK3CD: 1nephritis → PIK3CD: 1enteropathy → PIK3CD: 1AIHA → PIK3R1: 1ITP → PIK3R1: 1AIN → PIK3R1: 1thyroiditis → PIK3R1: 1hepatitis → PIK3R1: 1pancreatitis → PIK3R1: 1nephritis → PIK3R1: 1enteropathy → PIK3R1: 1AIHA → PTEN: 1thyroiditis → PTEN: 1enteropathy → PTEN: 1nephritis → CD19: 1nephritis → CD81: 1vasculitis → CD81: 1arthritis → CD81: 1AIHA → TNFRSF13B: 1ITP → TNFRSF13B: 1vitiligo → TNFRSF13B: 1T1D → TNFRSF13B: 1enteropathy → TNFRSF13B: 1hepatitis → TNFRSF13B: 1arthritis → TNFRSF13B: 1urticaria → TNFRSF13B: 1parotitis → TNFRSF13B: 1ITP → TNFSF12: 1AIN → TNFSF12: 1AIHA → NFKB1: 1ITP → NFKB1: 1AIN → NFKB1: 1thyroiditis → NFKB1: 1enteropathy → NFKB1: 1hepatitis → NFKB1: 1ILD → NFKB1: 1dermatitis → NFKB1: 1alopecia → NFKB1: 1arthritis → NFKB1: 1alopecia → NFKB2: 1dermatitis → NFKB2: 1hepatitis → NFKB2: 1CK-AAB → NFKB2: 1AIHA → IKZF1: 1ITP → IKZF1: 1AIN → IKZF1: 1thyroiditis → IKZF1: 1T1D → IKZF1: 1hepatitis → IKZF1: 1vasculitis → IKZF1: 1alopecia → IKZF1: 1vitiligo → IKZF1: 1arthritis → IKZF1: 1T1D → IRF2BP2: 1ITP → ARHGEF1: 1thyroiditis → RAC2: 1nephritis → RAC2: 1AIHA → PIK3CG: 1ITP → PIK3CG: 1dermatitis → PIK3CG: 1enteropathy → PIK3CG: 1ILD → PIK3CG: 1AIHA → AICDA: 1ITP → AICDA: 1hepatitis → AICDA: 1arthritis → AICDA: 1enteropathy → AICDA: 1uveitis → AICDA: 1SLE/SLE-like → AICDA: 1T1D → UNG: 1ITP → CTNNBL1: 1thyroiditis → CTNNBL1: 1vitiligo → CTNNBL1: 1alopecia → TNFSF13: 1ITP → CARD11-GOF: 1hepatitis → CARD11-GOF: 1nephritis → CARD11-GOF: 1arthritis → CARD11-GOF: 1Polyendocrinopathy → FOXP3: 1hypophysitis → FOXP3: 1thyroiditis → FOXP3: 1T1D → FOXP3: 1adrenitis → FOXP3: 1enteropathy → FOXP3: 1dermatitis → FOXP3: 1ITP → FOXP3: 1AIHA → FOXP3: 1AIN → FOXP3: 1ITP → CTLA4: 1AIHA → CTLA4: 1AIN → CTLA4: 1enteropathy → CTLA4: 1ILD → CTLA4: 1vitiligo → CTLA4: 1ITP → LRBA: 1AIHA → LRBA: 1AIN → LRBA: 1enteropathy → LRBA: 1ILD → LRBA: 1vitiligo → LRBA: 1ITP → DEF6: 1AIHA → DEF6: 1enteropathy → DEF6: 1AIHA → STAT3-GOF: 1ITP → STAT3-GOF: 1AIN → STAT3-GOF: 1arthritis → STAT3-GOF: 1enteropathy → STAT3-GOF: 1ILD → STAT3-GOF: 1thyroiditis → STAT3-GOF: 1T1D → STAT3-GOF: 1enteropathy → BACH2: 1dermatomyositis → BACH2: 1SLE/SLE-like → BACH2: 1Polyendocrinopathy → AIRE: 1thyroiditis → AIRE: 1parathyroiditis → AIRE: 1adrenitis → AIRE: 1T1D → AIRE: 1gonaditis → AIRE: 1alopecia → AIRE: 1enteropathy → AIRE: 1CK-AAB, CMC → AIRE: 1IFN-AAB, severe COVID19 → AIRE: 1IF-AAB, pernicious anemia → AIRE: 1ILD → ITCH: 1thyroiditis → ITCH: 1hepatitis → ITCH: 1enteropathy → ITCH: 1T1D → ITCH: 1arthritis → ITCH: 1uveitis → ITCH: 1AIHA → TPP2: 1ITP → TPP2: 1AIN → TPP2: 1thyroiditis → JAK1: 1enteropathy → JAK1: 1dermatitis → JAK1: 1enteropathy → PEPD: 1arthritis → PEPD: 1SLE/SLE-like → PEPD: 1AIHA → SOCS1: 1ITP → SOCS1: 1AIN → SOCS1: 1arthritis → SOCS1: 1psoriasis → SOCS1: 1nephritis → SOCS1: 1SLE/SLE-like → SOCS1: 1thyroiditis → PDCD1: 1T1D → PDCD1: 1alveolitis → PDCD1: 1AIHA → FAS, FASL: 1ITP → FAS, FASL: 1AIN → FAS, FASL: 1lymphoproliferation → FAS, FASL: 1nephritis → FAS, FASL: 1hepatitis → FAS, FASL: 1vasculitis → FAS, FASL: 1pancreatitis → FAS, FASL: 1aplastic anemia → FAS, FASL: 1AIHA → CASP10: 1SLE/SLE-like → CASP10: 1enteropathy → CASP8: 1hepatitis → CASP8: 1pneumonitis → CASP8: 1AIHA → FADD: 1encephalopathy → FADD: 1hepatopathy → FADD: 1AIHA → TET2: 1ITP → TET2: 1enteropathy → G6PC3: 1ITP → G6PC3: 1arthritis → G6PC3: 1enteropathy → G6PT1: 1thyroiditis → G6PT1: 1myasthenia gravis → G6PT1: 1enteropathy → CYBB, CYBA, NCF1, NCF2: 1ILD → CYBB, CYBA, NCF1, NCF2: 1SLE/SLE-like → CYBB, CYBA, NCF1, NCF2: 1dermatomyositis → CYBB, CYBA, NCF1, NCF2: 1APS → CYBB, CYBA, NCF1, NCF2: 1ITP → CYBB, CYBA, NCF1, NCF2: 1arthritis → CYBB, CYBA, NCF1, NCF2: 1alopecia → CYBB, CYBA, NCF1, NCF2: 1SLE → C1QA, B, C: 1SLE → C4A, B: 1SLE → C2: 1SLE/SLE-like → C3: 1LAT → TCR-signalosome insufficiency: 1SLP76 → TCR-signalosome insufficiency: 1RAG1,2 → V(D)J-recombination insufficiency: 1DCLRE1C → V(D)J-recombination insufficiency: 1PRKCD → V(D)J-recombination insufficiency: 1PRKCD → AIRE-expression insufficiency: 1NHEJ1 → V(D)J-recombination insufficiency: 1LIG4 → V(D)J-recombination insufficiency: 1ADA → Purine metabolism insufficiency: 1CD40LG → CD40:CD40L-signaling insufficiency: 1CD40LG → T:B-cell co-signaling insufficiency: 1ICOS → ICOS:ICOSL-signaling insufficiency: 1ICOS → T:B-cell co-signaling insufficiency: 1CD3G → TCR-complex insufficiency: 1ZAP70 → TCR-signalosome insufficiency: 1ZAP70/HM-GOF → TCR-signalosome insufficiency: 1IKZF2 → Transcription factor insufficiency: 1DOCK8 → Actin-cytoskeleton insufficiency: 1STK4 → Hippo-signaling insufficiency: 1TRAC → TCR-complex insufficiency: 1LCK → TCR-signalosome insufficiency: 1ITK → TCR-signalosome insufficiency: 1MALT1 → CBM-signalosome insufficiency: 1CARD11 → CBM-signalosome insufficiency: 1IKBKB-LOF → NFKB1-signaling imbalance: 1IKBKB-GOF → NFKB1-signaling imbalance: 1CHUK → NFKB2-signaling imbalance: 1CHUK → AIRE-expression insufficiency: 1MAP3K14 → NFKB2-signaling imbalance: 1MAP3K14 → AIRE-expression insufficiency: 1RELB → NFKB2-signaling imbalance: 1RELB → AIRE-expression insufficiency: 1MSN → Actin-cytoskeleton insufficiency: 1TFRC → Transferrin uptake insufficiency: 1SASH3 → TCR- and BCR-signalosome insufficiency: 1WAS → Actin-cytoskeleton insufficiency: 1WIPF1 → Actin-cytoskeleton insufficiency: 1ARPCB1 → Actin-cytoskeleton insufficiency: 1ATM → DNA-damage sensing insufficiency: 1DNMT3B → DNA-methylation insufficiency: 1POLE2 → DNA-replication insufficiency: 1Del22q11.2, TBX1 → Transcription factor insufficiency: 1FOXN1 → Transcription factor insufficiency: 1Del11q23del → Contiguous gene syndrome: 1RMRP → Mitochondrial RNA-metabolism insufficiency: 1SMARCAL1 → Replication fork DNA-reannealing insufficiency: 1STAT3-DN → JAK/STAT/SOCS-signaling imbalance: 1PGM3 → Glycosylation insufficiency: 1MTHFD1 → Folate cycle insufficiency: 1ORAI1 → Store-operated calcium-entry insufficiency: 1STIM1 → Store-operated calcium-entry insufficiency: 1PNP → Purine metabolism insufficiency: 1PNP → TLR7-ligand availability imbalance: 1STAT5B → IL-2-signalling imbalance: 1KMT2D → Histone-methylation imbalance: 1KDM6A → Histone-methylation imbalance: 1PIK3CD → PIP3-signalling imbalance: 1PIK3R1 → PIP3-signalling imbalance: 1PTEN → PIP3-signalling imbalance: 1CD19 → B-cell co-receptor-signaling insufficiency: 1CD81 → B-cell co-receptor-signaling insufficiency: 1TNFRSF13B → BAFF/APRIL/BLYS:TACI-signaling insufficiency: 1TNFRSF13B → B-cell co-signaling insufficiency: 1TNFSF12 → TWEAK:TWEAKR-signaling insufficiency: 1TNFSF12 → T:B-cell co-signaling insufficiency: 1NFKB1 → NFKB1-signaling imbalance: 1NFKB2 → NFKB2-signaling imbalance: 1NFKB2 → AIRE-expression insufficiency: 1IKZF1 → Transcription factor insufficiency: 1IRF2BP2 → Transcriptional co-factor insufficiency: 1ARHGEF1 → Actin-cytoskeleton insufficiency: 1RAC2 → Actin-cytoskeleton insufficiency: 1PIK3CG → PIP3-signalling imbalance: 1AICDA → Class-switch-recombination and somatic hypermutation insufficiency: 1UNG → Class-switch-recombination and somatic hypermutation insufficiency: 1CTNNBL1 → Class-switch-recombination and somatic hypermutation insufficiency: 1TNFSF13 → BAFF/APRIL/BLYS:TACI-signaling insufficiency: 1TNFSF13 → B-cell co-signaling insufficiency: 1CARD11-GOF → CBM-signalosome insufficiency: 1FOXP3 → Transcription factor insufficiency: 1IL2RA,B → IL-2-signalling imbalance: 1CTLA4 → CTLA4-insufficiency: 1LRBA → CTLA4-insufficiency: 1DEF6 → CTLA4-insufficiency: 1STAT3-GOF → JAK/STAT/SOCS-signaling imbalance: 1BACH2 → Transcription factor insufficiency: 1AIRE → AIRE-expression insufficiency: 1ITCH → Ubiquitination-insufficiency: 1TPP2 → Protein homeostasis-insufficiency: 1JAK1 → JAK/STAT/SOCS-signaling imbalance: 1PEPD → Collagen homeostasis-insufficiency: 1SOCS1 → JAK/STAT/SOCS-signaling imbalance: 1PDCD1 → PDCD1LG1/PDCD1LG2: PDCD1-signaling insufficiency: 1FAS, FASL → FASL:FAS-signaling insufficiency: 1CASP10 → FASL:FAS- and TNF:TNFR-signaling insufficiency: 1CASP8 → FASL:FAS-, TNF:TNFR- and RIPK1-signaling insufficiency: 1FADD → FASL:FAS- and TNF:TNFR-signaling insufficiency: 1TET2 → DNA-methylation insufficiency: 1TET2 → FASL:FAS-signaling insufficiency: 1G6PC3 → Mitochondrial glucose utilization insufficiency: 1G6PT1 → Mitochondrial glucose utilization insufficiency: 1CYBB, CYBA, NCF1, NCF2 → NADPH-oxidase insufficiency: 1CYBB, CYBA, NCF1, NCF2 → IL-1-family imbalance: 1C1QA, B, C → Complement tagging insufficiency: 1C4A, B → Complement tagging insufficiency: 1C2 → Complement tagging insufficiency: 1C3 → Complement tagging insufficiency: 1CD40:CD40L-signaling insufficiency → T- and B-cell activation insufficiency: 1ICOS:ICOSL-signaling insufficiency → T- and B-cell activation insufficiency: 1Transcription factor insufficiency → T- and B-cell differentiation insufficiency: 1Hippo-signaling insufficiency → T- and B-cell differentiation insufficiency: 1Transferrin uptake insufficiency → T- and B-cell differentiation insufficiency: 1TCR- and BCR-signalosome insufficiency → T- and B-cell activation insufficiency: 1DNA-damage sensing insufficiency → T- and B-cell antigen receptor-repertoire diversity insufficiency: 1DNA-replication insufficiency → lymphocyte development insufficiency: 1Contiguous gene syndrome → thymic stroma insufficiency: 1Contiguous gene syndrome → Treg insufficiency: 1Mitochondrial RNA-metabolism insufficiency → lymphocyte differentiation insufficiency: 1Mitochondrial RNA-metabolism insufficiency → autoinflammation: 1Replication fork DNA-reannealing insufficiency → lymphocyte differentiation insufficiency: 1JAK/STAT/SOCS-signaling imbalance → T- and B-cell differentiation insufficiency: 1Glycosylation insufficiency → lymphocyte differentiation insufficiency: 1Folate cycle insufficiency → lymphocyte survival insufficiency: 1Store-operated calcium-entry insufficiency → T- and B-cell activation insufficiency: 1TLR7-ligand availability imbalance → pDC hyperactivity: 1TLR7-ligand availability imbalance → autoinflammation: 1BAFF/APRIL/BLYS:TACI-signaling insufficiency → B-cell activation insufficiency: 1TWEAK:TWEAKR-signaling insufficiency → T- and B-cell activation insufficiency: 1Transcriptional co-factor insufficiency → B-cell differentiation insufficiency: 1Actin-cytoskeleton insufficiency → B-cell differentiation insufficiency: 1Actin-cytoskeleton insufficiency → T- and B-cell differentiation insufficiency: 1BAFF/APRIL/BLYS:TACI-signaling insufficiency → B-cell activation insufficiency: 1JAK/STAT/SOCS-signaling imbalance → autoinflammation: 1AIRE-expression insufficiency → thymic negative selection insufficiency (APECED): 1Ubiquitination-insufficiency → unclear: 1Ubiquitination-insufficiency → autoinflammation: 1Protein homeostasis-insufficiency → lymphocyte survival insufficiency: 1Collagen homeostasis-insufficiency → unclear: 1PDCD1LG1/PDCD1LG2: PDCD1-signaling insufficiency → Treg:Teff co-signaling insufficiency: 1FASL:FAS-, TNF:TNFR- and RIPK1-signaling insufficiency → lymphocyte apoptosis and necroptosis-insufficiency: 1NADPH-oxidase insufficiency → immune complex and/or apoptotic debris clearance insufficiency: 1IL-1-family imbalance → myeloid and lymphoid cell hyperactivity: 1IL-1-family imbalance → autoinflammation: 1Complement tagging insufficiency → immune complex and/or apoptotic debris clearance insufficiency: 1Complement tagging insufficiency → myeloid and lymphoid cell hyperactivity: 1Complement tagging insufficiency → autoinflammation: 1AIHA: 49LAT: 3SLP76: 1RAG1,2: 9ITP: 53DCLRE1C: 1NHEJ1: 4thyroiditis: 32dermatitis: 22ADA: 6AIN: 23granuloma(-tosis): 6PRKCD: 3aplastic anemia: 2vitiligo: 12alopecia: 13neuropathy: 2myopathy: 1AITTP: 1arthritis: 24LIG4: 5nephritis: 16pneumonitis: 6T1D: 14CD40LG: 6hepatitis: 19ICOS: 6CD3G: 5ZAP70: 3ZAP70/HM-GOF: 3FVIII-AAB: 1IKZF2: 2SLE/SLE-like: 13DOCK8: 6uveitis: 3vasculitis: 9STK4: 6TRAC: 3LCK: 3ITK: 5MALT1: 3CARD11: 8IKBKB-LOF: 3CHUK: 2CK-AAB: 2MAP3K14: 2RELB: 3MSN: 3TTP: 1TFRC: 4SASH3: 5WAS: 10enteropathy: 27myositis: 2WIPF1: 2ARPCB1: 6ATM: 6DNMT3B: 3POLE2: 2Del22q11.2, TBX1: 6FOXN1: 3nail dystrophy: 1Del11q23del: 3RMRP: 8nephropathy: 1SMARCAL1: 4STAT3-DN: 1PGM3: 4MTHFD1: 2IKBKB-GOF: 2ORAI1: 2STIM1: 2PNP: 5PSC: 1STAT5B: 6ILD: 8KMT2D: 5KDM6A: 5PIK3CD: 8pancreatitis: 3PIK3R1: 8PTEN: 3CD19: 1CD81: 3TNFRSF13B: 9urticaria: 1parotitis: 1TNFSF12: 2NFKB1: 10NFKB2: 4IKZF1: 10IRF2BP2: 1ARHGEF1: 1RAC2: 2PIK3CG: 5AICDA: 7UNG: 1CTNNBL1: 3TNFSF13: 2CARD11-GOF: 4Polyendocrinopathy: 2FOXP3: 10hypophysitis: 1adrenitis: 2IPEX-like: 2IL2RA,B: 2CTLA4: 6LRBA: 6DEF6: 3STAT3-GOF: 8BACH2: 3dermatomyositis: 2AIRE: 11parathyroiditis: 1gonaditis: 1CK-AAB, CMC: 1IFN-AAB, severe COVID19: 1IF-AAB, pernicious anemia: 1ITCH: 7TPP2: 3JAK1: 3PEPD: 3SOCS1: 7psoriasis: 1PDCD1: 3alveolitis: 1FAS, FASL: 9lymphoproliferation: 1CASP10: 2CASP8: 3FADD: 3encephalopathy: 1hepatopathy: 1TET2: 2G6PC3: 3G6PT1: 3myasthenia gravis: 1CYBB, CYBA, NCF1, NCF2: 8APS: 1SLE: 3C1QA, B, C: 1C4A, B: 1C2: 1C3: 1TCR-signalosome insufficiency: 6V(D)J-recombination insufficiency: 5AIRE-expression insufficiency: 6Purine metabolism insufficiency: 4CD40:CD40L-signaling insufficiency: 1T:B-cell co-signaling insufficiency: 3ICOS:ICOSL-signaling insufficiency: 1TCR-complex insufficiency: 2Transcription factor insufficiency: 8Actin-cytoskeleton insufficiency: 7Hippo-signaling insufficiency: 1CBM-signalosome insufficiency: 3NFKB1-signaling imbalance: 3NFKB2-signaling imbalance: 4Transferrin uptake insufficiency: 1TCR- and BCR-signalosome insufficiency: 1DNA-damage sensing insufficiency: 1DNA-methylation insufficiency: 2DNA-replication insufficiency: 1Contiguous gene syndrome: 2Mitochondrial RNA-metabolism insufficiency: 2Replication fork DNA-reannealing insufficiency: 1JAK/STAT/SOCS-signaling imbalance: 5Glycosylation insufficiency: 1Folate cycle insufficiency: 1Store-operated calcium-entry insufficiency: 2TLR7-ligand availability imbalance: 2IL-2-signalling imbalance: 3Histone-methylation imbalance: 2PIP3-signalling imbalance: 4B-cell co-receptor-signaling insufficiency: 2BAFF/APRIL/BLYS:TACI-signaling insufficiency: 2B-cell co-signaling insufficiency: 2TWEAK:TWEAKR-signaling insufficiency: 1Transcriptional co-factor insufficiency: 1Class-switch-recombination and somatic hypermutation insufficiency: 3CTLA4-insufficiency: 3Ubiquitination-insufficiency: 2Protein homeostasis-insufficiency: 1Collagen homeostasis-insufficiency: 1PDCD1LG1/PDCD1LG2: PDCD1-signaling insufficiency: 1FASL:FAS-signaling insufficiency: 2FASL:FAS- and TNF:TNFR-signaling insufficiency: 2FASL:FAS-, TNF:TNFR- and RIPK1-signaling insufficiency: 1Mitochondrial glucose utilization insufficiency: 2NADPH-oxidase insufficiency: 1IL-1-family imbalance: 2Complement tagging insufficiency: 4T-cell activation insufficiency: 8T- and B-cell antigen receptor-repertoire diversity insufficiency: 15lymphocyte survival insufficiency: 4Treg insufficiency: 9T- and B-cell activation insufficiency: 14T- and B-cell differentiation insufficiency: 7myeloid and lymphoid cell activation, differentiation, and migration insufficiency: 5lymphocyte development insufficiency: 3thymic stroma insufficiency: 3lymphocyte differentiation insufficiency: 5autoinflammation: 6pDC hyperactivity: 1T- and B-cell hyperactivity: 4B-cell activation insufficiency: 6B-cell differentiation insufficiency: 5Treg:Teff co-signaling insufficiency: 4Treg and Thelp differentiation insufficiency: 5thymic negative selection insufficiency (APECED): 1unclear: 2lymphocyte apoptosis insufficiency: 4lymphocyte apoptosis and necroptosis-insufficiency: 1immune complex and/or apoptotic debris clearance insufficiency: 2myeloid and lymphoid cell hyperactivity: 2AIHALATSLP76RAG1,2ITPDCLRE1CNHEJ1thyroiditisdermatitisADAAINgranuloma(-tosis)PRKCDaplastic anemiavitiligoalopecianeuropathymyopathyAITTParthritisLIG4nephritispneumonitisT1DCD40LGhepatitisICOSCD3GZAP70ZAP70/HM-GOFFVIII-AABIKZF2SLE/SLE-likeDOCK8uveitisvasculitisSTK4TRACLCKITKMALT1CARD11IKBKB-LOFCHUKCK-AABMAP3K14RELBMSNTTPTFRCSASH3WASenteropathymyositisWIPF1ARPCB1ATMDNMT3BPOLE2Del22q11.2, TBX1FOXN1nail dystrophyDel11q23delRMRPnephropathySMARCAL1STAT3-DNPGM3MTHFD1IKBKB-GOFORAI1STIM1PNPPSCSTAT5BILDKMT2DKDM6APIK3CDpancreatitisPIK3R1PTENCD19CD81TNFRSF13BurticariaparotitisTNFSF12NFKB1NFKB2IKZF1IRF2BP2ARHGEF1RAC2PIK3CGAICDAUNGCTNNBL1TNFSF13CARD11-GOFPolyendocrinopathyFOXP3hypophysitisadrenitisIPEX-likeIL2RA,BCTLA4LRBADEF6STAT3-GOFBACH2dermatomyositisAIREparathyroiditisgonaditisCK-AAB, CMCIFN-AAB, severe COVID19IF-AAB, pernicious anemiaITCHTPP2JAK1PEPDSOCS1psoriasisPDCD1alveolitisFAS, FASLlymphoproliferationCASP10CASP8FADDencephalopathyhepatopathyTET2G6PC3G6PT1myasthenia gravisCYBB, CYBA, NCF1, NCF2APSSLEC1QA, B, CC4A, BC2C3TCR-signalosome insufficiencyV(D)J-recombination insufficiencyAIRE-expression insufficiencyPurine metabolism insufficiencyCD40:CD40L-signaling insufficiencyT:B-cell co-signaling insufficiencyICOS:ICOSL-signaling insufficiencyTCR-complex insufficiencyTranscription factor insufficiencyActin-cytoskeleton insufficiencyHippo-signaling insufficiencyCBM-signalosome insufficiencyNFKB1-signaling imbalanceNFKB2-signaling imbalanceTransferrin uptake insufficiencyTCR- and BCR-signalosome insufficiencyDNA-damage sensing insufficiencyDNA-methylation insufficiencyDNA-replication insufficiencyContiguous gene syndromeMitochondrial RNA-metabolism insufficiencyReplication fork DNA-reannealing insufficiencyJAK/STAT/SOCS-signaling imbalanceGlycosylation insufficiencyFolate cycle insufficiencyStore-operated calcium-entry insufficiencyTLR7-ligand availability imbalanceIL-2-signalling imbalanceHistone-methylation imbalancePIP3-signalling imbalanceB-cell co-receptor-signaling insufficiencyBAFF/APRIL/BLYS:TACI-signaling insufficiencyB-cell co-signaling insufficiencyTWEAK:TWEAKR-signaling insufficiencyTranscriptional co-factor insufficiencyClass-switch-recombination and somatic hypermutation insufficiencyCTLA4-insufficiencyUbiquitination-insufficiencyProtein homeostasis-insufficiencyCollagen homeostasis-insufficiencyPDCD1LG1/PDCD1LG2: PDCD1-signaling insufficiencyFASL:FAS-signaling insufficiencyFASL:FAS- and TNF:TNFR-signaling insufficiencyFASL:FAS-, TNF:TNFR- and RIPK1-signaling insufficiencyMitochondrial glucose utilization insufficiencyNADPH-oxidase insufficiencyIL-1-family imbalanceComplement tagging insufficiencyT-cell activation insufficiencyT- and B-cell antigen receptor-repertoire diversity insufficiencylymphocyte survival insufficiencyTreg insufficiencyT- and B-cell activation insufficiencyT- and B-cell differentiation insufficiencymyeloid and lymphoid cell activation, differentiation, and migration insufficiencylymphocyte development insufficiencythymic stroma insufficiencylymphocyte differentiation insufficiencyautoinflammationpDC hyperactivityT- and B-cell hyperactivityB-cell activation insufficiencyB-cell differentiation insufficiencyTreg:Teff co-signaling insufficiencyTreg and Thelp differentiation insufficiencythymic negative selection insufficiency (APECED)unclearlymphocyte apoptosis insufficiencylymphocyte apoptosis and necroptosis-insufficiencyimmune complex and/or apoptotic debris clearance insufficiencymyeloid and lymphoid cell hyperactivity